1st Edition

Muscle Diseases A Guide to Differential diagnosis, investigation and management

Edited By Andria Merrison, Stefen Brady Copyright 2025
    154 Pages 32 Color & 14 B/W Illustrations
    by CRC Press

    154 Pages 32 Color & 14 B/W Illustrations
    by CRC Press

    A how-to-guide on the clinical assessment and investigation of patients presenting with muscle-related symptoms. Featuring a case-based approach, this accessible text is suitable for a wide range of clinical specialists who see patients presenting with both common and rare muscle diseases.

    Muscle diseases are often initially missed or misdiagnosed as they are uncommon disorders and can present in a variety of ways, often mimicking other more common disorders. Careful assessment of the history, physical examination and appropriate choice of investigations is therefore essential to reaching a diagnosis and providing short and long-term effective management plans. Key features of this resource include:

    •           A case-based approach: using real cases seen in clinical practice and highlighting different clinical presentations.

    •           Providing case vignettes that cover patient history, examination, investigations, diagnosis, and discussion points to assist the reader in developing a mental framework for thinking about muscle disease and approaching diagnosis.

    •           Highlighting the relevant investigations (including muscle biopsy, neurophysiology, and muscle imaging) required for each clinical scenario, aiding the clinician in clinicopathological correlation.

    •           Being concise, practical, and complemented by a wide range of figures to enhance understanding.

    Patients with muscle diseases may be referred to one of several medical or surgical specialties including neurology, rheumatology, neuropathology, neurophysiology, cardiology, respiratory medicine, intensive care medicine, gastroenterology, ophthalmology, orthopaedic and spinal surgery, before the correct diagnosis is considered. This accessible text is an ideal resource for clinicians.

    1.       History                                                                 

    Andria Merrison

    2.       Muscle Examination                                       

    Stefen Brady

    3.       Serological Tests                                              

    Stefen Brady

    4.       Muscle Antibodies                                          

    Maria Mirza and Joel David

    5.       Neurophysiology                                             

    Andria Merrison & Agyepong Oware

    6.       Muscle Pathology/ Muscle Biopsy            

    Andria Merrison & Kathy Urankar

    7.       Muscle Imaging                                                

    Rajat Chowdary

    8.       Genetic investigations in neuromuscular diseases                                                              

    Kate Sargent and Carl Fratter

    9.       Management, treatment and therapy for Neuromuscular conditions                        

    Andria Merrison

    10.   Close                                                                    

    Stefen Brady

    CASES

    1.       Becker muscular dystrophy                                         

    Stefen Brady

    2.       Duchenne muscular dystrophy                                  

    Sithara Ramdas

    3.       Facioscapulohumeral muscular dystrophy

    Stefen Brady

    4.       Recessive limb girdle muscular dystrophy R1 (calpainopathy)

    Andria Merrison

    5.       Recessive limb girdle muscular dystrophy R12 (ANO5)

    Andria Merrison

    6.       Dominant limb girdle muscular dystrophy (Emery-Dreifuss muscular dystrophy 2)

    Andria Merrison

    7.       Collagen VI myopathy                                   

    Stefen Brady

    8.       Nemaline myopathy                                       

    Andria Merrison

    9.       Emery-Dreifuss muscular dystrophy        

    Andria Merrison

    10.   GNE myopathy                                                 

    Andria Merrison

    11.   Ryanodine receptor 1 (RyR1) congenital myopathy

    Sithara Ramdas

    12.   BAG3 myofibrillar myopathy                       

    Andria Merrison

    13.   Distal myopathy                                               

    Louisa Kent and Stefen Brady

    14.   Oculopharyngeal muscular dystrophy     

    Andria Merrison

    15.   Tubular aggregate myopathy                      

    Stefen Brady

    16.   Myotonic dystrophy type 1                          

    Andria Merrison

    17.   Myotonic dystrophy type 2                          

    Andria Merrison

    18.   Myotonia congenita                                       

    Andria Merrison

    19.   Inclusion body myositis (IBM)                    

    Stefen Brady

    20.   Dermatomyositis                                             

    Kezia Austin & Harsha Gunawardena

    21.   ASS

    Joel David and Charlotte David

    22.   Sarcoid myopathy                                           

    Matthew Wells & Harsha Gunawardena

    23.   Statin-related myopathy                               

    Stefen Brady

    24.   Critical illness myopathy                               

    Andria Merrison

    25.   Thyroid myopathy                                           

    Louisa Kent and Stefen Brady

    26.   Asymptomatic hyperCKaemia                    

    Stefen Brady

    27.   Neck extensor myopathy                             

    Stefen Brady      

    28.   McArdle disease                                              

    Stefen Brady

    29.   Acid maltase deficiency (Pompe disease)

    Andria Merrison

    30.   Fatty acid oxidation disorders                     

    Stefen Brady

    31.   Adult-onset ryanodine receptor 1 (RYR1) related myopathy          

    Stefen Brady

    32.   Progressive external ophthalmoplegia                    

    Stefen Brady

    33.   Mitochondrial encephalopathy, lactic acidosis & stroke-like episodes (MELAS)      

    Stefen Brady

    34.   Limb-girdle congenital myasthenia syndrome                      

    Stefen Brady

    35.   Spinal muscular atrophy

    Andria Merrison                              

    36.   Kennedy’s disease                                           

    Andria Merrison

    Biography

    Dr Andria FA Merrison, MA MBChB MD FRCP is a Consultant Neurologist based in North Bristol NHS Trust and is the Director of the South West Neuromuscular Operational Delivery Network and the Bristol Motor Neurone Disease Centre. 

    Dr Stefen Brady BA, MB, BCh, BAO, FRCP, DPhil is a Consultant Neurologist and Clinical Lead of the Oxford Adult Muscle and Spinal Muscular Atrophy (SMA) Services, Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford.